Clinical spectrum of chromosome 6-linked autosomal dominant drusen and macular degeneration

PURPOSE: To describe the clinical phenotype and the intrafamilial variation in retinal findings in a North American family with an autosomal dominant drusen disorder that maps to chromosome 6q14. METHODS: Ophthalmic examinations were carried out on participating family m embers. Fundus photographs were obtained whenever possible. Electroretinogr aphy was performed on the proband and her father. Blood was drawn for DNA a nalysis. RESULTS: Twelve family members had drusen and/or atrophic macular degenerat ion. The disease in asymptomatic young adults is characterized by fine drus en that are most conspicuous in the macula. The proband presented at 3 year s of age with atrophic maculopathy and drusen. Her cousin was found to have atrophic macular lesions and drusen in the first year of life. Two older a ffected individuals have reduced vision from cicatricial and atrophic macul ar changes, The gene for the disease was mapped to chromosome 6q14 and appe ars to be adjacent to but distinct from the locus for North Carolina macula r dystrophy. CONCLUSIONS: There is extreme variability in the clinical expression of thi s dominant form of drusen and macular degeneration. Most young adults have fine macular drusen and good vision. Affected infants and children may have congenital atrophic maculopathy and drusen. There is historical evidence o f progression of the disease in late adulthood with moderate visual loss. ( C) 2000 by Elsevier Science Inc. All rights reserved.